Publications:

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Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.

Frontiers In Oncology

Liu, Hangqi H; Zhang, Zhiwen Z; Chen, Longyun L; Pang, Junyi J; Wu, Huanwen H; Liang, Zhiyong Z

Publication Date: 2021

Variant appearance in text: ATM: 8851G>A; Val2951Ile

PubMed Link: 35096598

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 8851G>A; V2951I

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity.

Cancers

Kanaki, Zoi Z; Voutsina, Alexandra A; Markou, Athina A; Pateras, Ioannis S IS; Potaris, Konstantinos K; Avgeris, Margaritis M; Makrythanasis, Periklis P; Athanasiadis, Emmanouil I EI; Vamvakaris, Ioannis I; Patsea, Eleni E; Vachlas, Konstantinos K; Lianidou, Evi E; Georgoulias, Vassilis V; Kotsakis, Athanasios A; Klinakis, Apostolos A

Publication Date: 2021-05-18

Variant appearance in text: ATM: 8851G>A; V2951I

PubMed Link: 34070013

Variant Present in the following documents:

• cancers-13-02446.pdf

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: ATM: 8851G>A; V2951I

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

View BVdb publication page

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Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.

Oncotarget

Kondo, Tomohiro T; Kanai, Masashi M; Kou, Tadayuki T; Sakuma, Tomohiro T; Mochizuki, Hiroaki H; Kamada, Mayumi M; Nakatsui, Masahiko M; Uza, Norimitsu N; Kodama, Yuzo Y; Masui, Toshihiko T; Takaori, Kyoichi K; Matsumoto, Shigemi S; Miyake, Hidehiko H; Okuno, Yasushi Y; Muto, Manabu M

Publication Date: 2018-04-13

Variant appearance in text: ATM: V2951I

PubMed Link: 29731985

Variant Present in the following documents:

• Main text
• oncotarget-09-19817.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: ATM: V2951I

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemia.

Blood Cancer Journal

Hurtado, A M AM; Chen-Liang, T-H TH; Przychodzen, B B; Hamedi, C C; Muñoz-Ballester, J J; Dienes, B B; García-Malo, M D MD; Antón, A I AI; de Arriba, F F; Teruel-Montoya, R R; Ortuño, F J FJ; Vicente, V V; Maciejewski, J P JP; Jerez, A A

Publication Date: 2015-08-28

Variant appearance in text: ATM: V2951I

PubMed Link: 26314984

Variant Present in the following documents:

• bcj201565x1.xls, sheet 1

View BVdb publication page

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Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Blood

Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS

Publication Date: 2014-08-28

Variant appearance in text: ATM: V2951I

PubMed Link: 24825865

Variant Present in the following documents:

• Main text

View BVdb publication page

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